ClinVar

NM_001289808.2(CRYAB):c.165G>A (p.Leu55=)

Gene:

CRYAB:crystallin alpha B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.1

Genomic location:

• Chr11: 111911560 (on Assembly GRCh38)
• Chr11: 111782284 (on Assembly GRCh37)

Preferred name:

NM_001289808.2(CRYAB):c.165G>A (p.Leu55=)

Other names:

p.L55L:CTG>CTA

HGVS:

• NC_000011.10:g.111911560C>T
• NG_009824.3:g.17163G>A
• NG_033080.2:g.3825C>T
• NM_001289807.1:c.165G>A
• NM_001289808.2:c.165G>AMANE SELECT
• NM_001368245.1:c.165G>A
• NM_001885.3:c.165G>A
• NP_001276736.1:p.Leu55=
• NP_001276737.1:p.Leu55=
• NP_001355174.1:p.Leu55=
• NP_001876.1:p.Leu55=
• LRG_407t1:c.165G>A
• LRG_407t2:c.165G>A
• LRG_407:g.17163G>A
• LRG_407p1:p.Leu55=
• LRG_407p2:p.Leu55=
• NC_000011.9:g.111782284C>T
• NG_009824.2:g.17163G>A
• NG_033080.1:g.3825C>T
• NM_001289808.1:c.165G>A
• NM_001885.1:c.165G>A
• NM_001885.2:c.165G>A
• c.165G>A
• p.Leu55Leu

This HGVS expression did not pass validation

Links:

dbSNP: rs2228387

NCBI 1000 Genomes Browser:

rs2228387

Molecular consequence:

• NM_001289807.1:c.165G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289808.2:c.165G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001368245.1:c.165G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001885.3:c.165G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

56